Genetic Testing for Accurate Diabetes Differentiation in Nigeria

尼日利亚用于准确区分糖尿病的基因检测

基本信息

批准号：
9910229
负责人：
Williams Onabumeh Balogun
金额：
$ 7.21万
依托单位：
COLLEGE OF MEDICINE, UNIVERSITY OF IBADAN
依托单位国家：
美国
项目类别：
财政年份：
2017
资助国家：
美国
起止时间：
2017-08-22 至 2022-03-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9910229
关键词：
Address Africa African Age-Years Americas Area Attitude Attitude to Health Award Awareness Bioinformatics Centers of Research Excellence Chicago Cities Clinic Clinical Competence Complex Consultations Course Content DNA sequencing Decision Analysis Detection Developed Countries Developing Countries Development Diabetes Mellitus Diagnosis Disease Frequencies Future Genes Genetic Research Genetic Services Genomic medicine Genomics Genotype Goals Grant Guidelines Health Personnel Health Professional Hospital Administration Human Resources Institution Insulin-Dependent Diabetes Mellitus Knowledge Lead Leadership Learning Life Link Mentorship Molecular Molecular Diagnostic Techniques Motivation Nigeria Nigerian Non-Insulin-Dependent Diabetes Mellitus Outcome Patients Pattern Perception Phenotype Physicians Population Public Health Research Research Personnel Research Training Resources Scientist Screening procedure Seeds South Africa Specimen Surveys Test Result Testing Time Training Training Programs Translating United States National Institutes of Health Universities Variant accurate diagnosis biobank biomedical referral center career clinical practice design diabetes mellitus genetics diabetic patient experience genetic testing genetic variant genome wide association study improved interest low and middle-income countries maltreatment maturity onset diabetes of the young molecular diagnostics patient screening personalized diagnostics programs prototype screening skills support tools translational genomics translational impact

项目摘要

PROJECT /SUMMARY ABSTRACT My prior training and exposures linked with my long-term goal makes this K43 Emerging Global Award for Developing Countries the ideal opportunity for me to realise my aspiration as an independent researcher in the field of translational genomics in non-communicable diseases. Genetic research in the area of NCDs in general, but particularly in diabetes is very sparse in Africa. I was however opportuned to be part of the only notable diabetes genetic project in West Africa, the Africa America Diabetes Mellitus Study, by which the seed of my interest in genetic research was cultivated. Recently, through the NIH D43 collaborative research-training programme between University of Ibadan and University of Chicago, I was exposed further to the impact of genomics advances in improving diagnostic precision of diabetes. In order to advance my career as independent investigator, I now ask whether acquisition of competency in diagnostic molecular genomics in NCDs, and its application in the clinic setting, can translate into improved diagnostic precision of diabetes, particularly detection of monogenic cause of diabetes as a test case. Non-communicable diseases (NCDs) such as diabetes have devastating consequences on African nations such as Nigeria. Contributing to this is very little access to genetic testing resulting in misdiagnosis or, in some cases like monogenic diabetes (MD), non-diagnosis. Consequently, the proportion, spectrum and pattern of undiagnosed MD among patients with commoner types of diabetes in Nigeria remain unknown. It is not known whether identifying and addressing physicians' related barriers to genetic testing could facilitate genotypic description of MD in Nigeria, as a prototype for application of genetic testing to other NCDs. My overall objective for this K43 application is to describe the frequency and spectrum of genetic variants of MD in Nigeria, while I obtain training and competency in diagnostic molecular genomics focused on NCDs, so as to improve diagnostic precision of these conditions and thereby make Ibadan, Nigeria, a referral center for the entire West Africa. My hypothesis is that physicians' related factors constitute significant barriers to application and utility of genetic testing in the clinic, with consequent undiagnosed or misdiagnosed MD among patients with diabetes in Nigerian, who are likely to have different genotypic variants compared to other population. In the research plan, I describe the three specific aims that need to be achieved in the Nigerian setting to move from non-application of genetic testing in the clinic to using the outcome of genetic testing to describe the genotypic spectrum of a previously undiagnosed condition such as MD in Nigeria. The knowledge and experience gained can then be extended to other NCDs and, through training of others, increase capacity and impact the whole of West Africa. First, there is need to identify physicians' related barriers by carrying out surveys among eligible doctors practicing in public health institutions in Ibadan. Secondly, I plan to develop and implement a genomics programme to diagnose and classify diabetes in the clinic through design of a practical, contextualised decision support tool for physicians. Lastly, using a two-step strategy of screening likely patients by a practical guideline and sequencing DNA of selected patients, I will then describe the frequency, spectrum and genotypic pattern of MD among clinic patients with diabetes. In order to be successful at application of genomics to improve diagnostic precision of NCDs in Nigeria, I need further training in genomics, bioinformatics as well as leadership skills required to build a RCE in a LMIC. I have identified and assembled a mentorship committee in these areas and together we have planned a curriculum of courses training programme that will lead me to this end. The K43 award will enable me to develop the competency to independently carry out phenotype-genotype matching in NCDs, and make Ibadan a referral and training centre for other parts of West Africa.

项目/摘要我之前的培训和经历与我的长期目标相关，使我获得了 K43 新兴全球奖发展中国家是我实现作为独立研究员的愿望的理想机会非传染性疾病的转化基因组学领域。非传染性疾病领域的遗传学研究一般而言，但特别是糖尿病患者在非洲非常稀少。然而，我有机会成为唯一的一部分西非著名的糖尿病遗传学项目，非洲美洲糖尿病研究，通过该项目我对基因研究兴趣的种子就这样萌芽了。最近，通过 NIH D43 合作伊巴丹大学和芝加哥大学之间的研究培训项目，我被曝光了进一步探讨基因组学进步对提高糖尿病诊断精度的影响。为了推进我作为独立调查员的职业生涯，我现在问是否获得诊断能力非传染性疾病的分子基因组学及其在临床环境中的应用可以转化为改进的诊断糖尿病的精准度，特别是糖尿病单基因病因的检测作为测试案例。糖尿病等非传染性疾病 (NCD) 对非洲国家造成毁灭性后果例如尼日利亚。造成这种情况的原因是很少有机会进行基因检测，从而导致误诊或有些病例如单基因糖尿病（MD），未得到诊断。因此，比例、频谱和尼日利亚常见类型糖尿病患者中未确诊 MD 的模式仍不清楚。它尚不清楚识别和解决医生在基因检测方面的相关障碍是否可以促进尼日利亚MD的基因型描述，作为基因检测应用于其他疾病的原型非传染性疾病。我此 K43 应用程序的总体目标是描述遗传的频率和频谱在尼日利亚，我获得了医学博士的变体，同时我获得了诊断分子基因组学方面的培训和能力的非传染性疾病，以提高这些疾病的诊断精度，从而使尼日利亚伊巴丹成为一个整个西非的转诊中心。我的假设是医生的相关因素构成基因检测在临床上的应用和效用存在重大障碍，从而导致未确诊或尼日利亚糖尿病患者被误诊为 MD，这些患者可能具有不同的基因型与其他人群相比的变异。在研究计划中，我描述了尼日利亚需要实现的三个具体目标从在临床上不应用基因检测转向使用基因检测的结果来描述以前未诊断的疾病的基因型谱，例如尼日利亚的MD。知识和获得的经验可以推广到其他非传染性疾病，并通过对其他人进行培训，提高能力并影响整个西非。首先，需要通过携带来识别医生的相关障碍对在伊巴丹公共卫生机构执业的合格医生进行了调查。其次，我打算开发和实施基因组学计划，通过以下方式在临床上诊断和分类糖尿病：为医生设计实用的、情境化的决策支持工具。最后，使用两步策略通过实用指南筛选可能的患者并对选定患者进行 DNA 测序，然后我将描述临床糖尿病患者中 MD 的频率、谱和基因型模式。为了成功应用基因组学来提高尼日利亚非传染性疾病的诊断精度，我需要进一步接受基因组学、生物信息学以及建立 RCE 所需的领导技能方面的培训中低收入国家。我已经在这些领域确定并组建了一个指导委员会，我们一起计划了一个包含课程的培训计划，它将带领我实现这一目标。 K43奖将使我能够培养独立进行非传染性疾病表型-基因型匹配的能力，并使伊巴丹成为西非其他地区的转介和培训中心。